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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

机译:RAD51C作为大量基因检测的乳腺癌患者的癌症易感性基因的评估

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Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in <20% of families with a presumed genetic predisposition for breast and ovarian cancer. Recent literature reported RAD51C as a new breast cancer susceptibility gene. In this study, we report the analysis of 410 patients from 351 unrelated pedigrees. All were referred for genetic testing and we selected families with at least one reported case of ovarian cancer in which BRCA1&2 mutations were previously ruled out. We analyzed the coding exons, intron–exons boundaries, and UTRs of RAD51C. Our mutation analysis did not reveal any unequivocal deleterious mutation. In total 12 unique sequence variations were identified of which two were novel. Our study and others suggest a low prevalence of RAD51C mutations with an exception for some founder populations. This observation is in favor of the rare allele hypothesis in the debate over the nature of the genetic contribution to individual susceptibility to breast and ovarian cancer and further genome-wide studies in high risk families are warranted.
机译:尽管对BRCA1和BRCA2基因进行了广泛分析,但在<20%的具有乳腺癌和卵巢癌遗传易感性的家庭中检测到种系突变。最近的文献报道RAD51C是一种新的乳腺癌易感基因。在这项研究中,我们报告了351个不相关的家系对410例患者的分析。所有这些均被送去进行基因检测,我们选择了至少有一个报道过卵巢癌病例的家庭,其中先前排除了BRCA1&2突变。我们分析了RAD51C的编码外显子,内含子-外显子边界和UTR。我们的突变分析未发现任何明确的有害突变。总共鉴定出12个独特的序列变异,其中两个是新颖的。我们的研究和其他研究表明,RAD51C突变的患病率较低,但某些创始人群体除外。在有关遗传因素对个体对乳腺癌和卵巢癌易感性的贡献的性质的辩论中,这一观察结果支持罕见的等位基因假说,因此有必要在高风险家庭中进行进一步的全基因组研究。

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